Progressive dysphagia in limb-girdle muscular dystrophy type 2B

Muscle Nerve. 2011 May;43(5):761-4. doi: 10.1002/mus.22041.


Dysphagia has not been reported in genetically confirmed limb-girdle muscular dystrophy type 2B (LGMD2B). A 40-year-old woman reported exercise-induced calf pain at age 34, followed by progressive lower and upper limb weakness. At age 38, progressive dysphagia for solids, and subsequently liquids, ensued. Endoscopic and videofluoroscopic-radiological findings indicated a myopathic swallowing disorder. Molecular genetic analysis confirmed two dysferlin gene mutations consistent with a compound heterozygote state. Progressive dysphagia should be considered as part of the expanding dysferlinopathy phenotype.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Deglutition Disorders / diagnosis*
  • Deglutition Disorders / etiology
  • Deglutition Disorders / genetics
  • Disease Progression*
  • Female
  • Humans
  • Muscular Dystrophies, Limb-Girdle / complications
  • Muscular Dystrophies, Limb-Girdle / diagnosis
  • Muscular Dystrophies, Limb-Girdle / genetics

Supplementary concepts

  • Limb-girdle muscular dystrophy, type 2B